Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

BACKGROUND: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines. METHOD: The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. PURPOSE: The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.

The burden of dental care in Amelogenesis Imperfecta paediatric patients in the UK NHS: a retrospective, multi-centred analysis.

PURPOSE: The burden of dental care in Amelogenesis Imperfecta (AI) has not been well described. This condition results in weak, discoloured and often sensitive teeth. Specialist paediatric care is available for AI patients in the UK, but treatment protocols and care provided are inconsistent. The aim of this study was therefore to analyse the provision of treatment and burden of care for children and families with AI across four Paediatric Dentistry centres in the UK. METHODS: A retrospective evaluation of AI patient clinical records across four UK consultant-led Paediatric Dentistry centres was completed. Frequency and duration of care were recorded along with treatment and experience of inhalation sedation, local and general anaesthetic. RESULTS: In total, 138 records were available for analysis. The average patient age at first referral was 7.7 years (range 1-16 years) and families travelled an average 21.8 miles per appointment (range 0.2-286 miles). Patients attended on average 4.5 appointments per year for 5.8 years. In total, 65.2% had experience of local anaesthetic, 27.5% inhalation sedation and 31.9% general anaesthetic. Dental treatment including restorations and extractions were commonly required on multiple teeth per patient. CONCLUSION: AI carries a high burden of specialist dental care to patients and families. Specialist centres are required to provide longitudinal, comprehensive care.

Drains and the periphery of the water system - what do you do when the guidance is outdated?

The periphery of the water system (defined as the last 2 m of pipework from an outlet and ensuing devices including drainage), is the juncture of multiple inherent risks: the necessity to use materials with higher risk of biofilm formation, difficulty in maintaining safe water temperatures, a human interface with drainage systems, poor design, poor layout and use by staff. Add to this risk a large new healthcare facility capital build programme in England, outdated guidance and bacteria emanating from drainage systems containing highly mobile genetic elements (threatening the end of the antibiotic era), and the scene is set for the perfect storm. There is an urgent need for the re-evaluation of the periphery of the water system and drainage systems. Consequently, in this article we examine the requirement and placement of hand wash stations (HWSs), design of showers, kitchens and the dirty utility with respect to water services. Lastly, we discuss the provision of safe water to high-risk patient groups. The purpose of this article is to stimulate debate and provide infection control and design teams with support in deviating from the outdated existing guidance and to challenge conventional thinking until new advice is forthcoming.

Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.

Divergent recommendations exist regarding the evaluation of adrenal incidentalomas. Recent data have indicated a prevalence of adrenal tumors of 71% in nonclassical congenital adrenal hyperplasia (CAH) and unmasked heterozygotes. These data expand the differential diagnosis of such incidental tumors and substantially modify the approach to their evaluation. We present two patients, female pseudohermaphrodites with the simple virilizing form of CAH and 21-hydroxylase deficiency, who functioned successfully as married phenotypic males. Both came to medical attention in the sixth decade by virtue of massive adrenal incidentalomas encountered in the evaluation of recurrent urinary tract infections. Each had a 46, XX karyotype, no palpable testes, and markedly elevated baseline levels of 17-hydroxyprogesterone (17-OH Prog) of 6086 ng/dL and 6750 ng/dL. Both responded appropriately to dexamethasone suppression with reduction of 17-OH Prog, androgens and, in the second patient, ACTH to normal or near normal levels. Histologic and autopsy examination of the first patient's tumor and computed tomographic characteristics of the second revealed a benign adenoma and myelolipoma respectively. We extend and confirm previous recommendations that CAH be included in the differential diagnosis of adrenal incidentaloma and that baseline 17-OH Prog. levels be obtained, with ACTH stimulation if necessary, to diagnose the presence of nonclassical CAH.

Correlations of dual-energy X-ray absorptiometry, quantitative computed tomography, and single photon absorptiometry with spinal and non-spinal fractures.

Controversy continues as to which method of measuring bone mineral density (BMD) best detects osteoporosis and best correlates with fractures of the spine, hip and elsewhere. To answer these questions the prevalence of fractures was carefully determined among 90 subjects (70 with osteoporosis, 6 with mild primary hyperparathyroidism, 1 with osteomalacia and 13 normals) and simultaneous measurements were made using spinal computed tomography (QCT), spinal anteroposterior (AP) and supine lateral dual X-ray absorptiometry (DXA), femoral neck and total hip DXA, and distal third radial DXA and single photon absorptiometry (SPA). The DXA measurements which had the greatest sensitivity in detecting osteoporosis (defined as a BMD lower than -2.5 SD of peak bone mass at age 30 years) were the supine lateral spine DXA (84%) and femoral neck DXA (75%); less sensitive were the DXA measurements of the distal third of the radius (61%) and AP spine (51%). DXA measurements of the femoral neck and distal third of the radius were more useful than spinal measurements in detecting the osteopenia of mild primary hyperparathyroidism. Vertebral compression fractures (VCF) correlated well with spinal QCT (r = 0.38) and lateral spine DXA (r = -0.41), but poorly with AP spine DXA (r = -0.17) and distal third radial DXA (r = -0.02). Non-spinal fractures correlated best with the distal third radial DXA (r = -0.42). In conclusion, spinal QCT, supine lateral spine DXA and femoral neck DXA are the best BMD methods to screen for osteoporosis, whereas AP spine DXA is a poor screening method in women over 60 years of age. Spinal QCT and lateral spine DXA correlate well with VCFs, whereas correlations of VCFs with AP spine DXA, femoral neck DXA and distal third radial DXA are poor.

Postmenopausal estrogen replacement: a long-term cohort study.

To assess the long-term effects of estrogen replacement therapy (ERT) in 157 postmenopausal women, a prospective, nonrandomized, cohort study was conducted from 1964 to 1989. ERT consisted of 0.625 mg of conjugated equine estrogen daily for the first 25 days of each month without oral progesterone from 1964 to 1984. From 1984 to 1989 5 mg of medroxyprogesterone was added from day 14 to 25 of every sixth month in subjects with an intact uterus. The mean loss of height was significantly less among the ERT subjects after age 65 years and remained at 0.08 cm/year from age 56 to 80 years, whereas the loss of height accelerated among the control subjects to 0.19 cm/year from age 66 to 70, to 0.22 cm/year from age 71 to 75, and to 0.30 cm/year from age 76 to 80. The mean cortical bone density at the distal third of the radius was significantly greater among the ERT subjects compared to the control subjects with the difference representing a 12.0% higher bone density with ERT. The risk of both vertebral compression and peripheral fractures was significantly reduced in the ERT group (relative risk 0.28). The mean serum LDL cholesterol was 21% lower and the mean HDL cholesterol, 37% higher among ERT subjects compared to control subjects. Both ERT and total serum cholesterol had independent effects on the development of cardiovascular disease (myocardial infarction and stroke) in a multivariate analysis.

Differential diagnosis of hypercalcemia.

The differential diagnosis of hypercalcemia has expanded to over 25 separate disease states, with primary hyperparathyroidism and malignancy accounting for 80-90% of all hypercalcemic patients. Primary hyperparathyroidism comprises the majority of hypercalcemic patients among the ambulatory population, but malignancy accounts for up to 65% of such patients in the hospital. Factors favoring primary hyperparathyroidism include a family history of hyperparathyroidism or multiple endocrine neoplasia, a history of childhood radiation to the head and neck, the postmenopausal state, a history of renal calculi or peptic ulcer, hypertension, the induction of hypercalcemia by thiazides, or an asymptomatic patient with a prolonged, stable mild hypercalcemia. The usefulness of the serum calcium, parathyroid hormone, chloride, phosphorus, serum 25-OHD, and 1,25-(OH)2D, and urinary calcium in the differential diagnosis of hypercalcemia is discussed. The pitfalls of an excessive reliance on the serum PTH in diagnosing hyperparathyroidism are stressed. The discriminant values of the serum calcium, chloride, phosphorus, and parathyroid hormone are explored, with the serum parathyroid hormone, chloride, and calcium proving most useful in separating primary hyperparathyroidism from other forms of hypercalcemia. Multivariate discriminant analysis using the serum calcium, phosphorus, and chloride and the hematocrit achieves an accuracy of 95-98% and is the most economical method of identifying hyperparathyroidism. The addition of the amino-terminal or intact PTH assay increases the accuracy to 99% and is essential in the presence of renal insufficiency.

Primary hyperparathyroidism. A review of the long-term surgical and nonsurgical morbidities as a basis for a rational approach to treatment.

We studied long-term morbidity after parathyroid surgery for primary hyperparathyroidism in 100 patients and compared it with the long-term morbidity of medical follow-up from the literature. The surgical treatment of primary hyperparathyroidism was associated with negative results of neck explorations, persistent hypercalcemia, recurrent hypercalcemia, permanent hypoparathyroidism, or recurrent laryngeal nerve damage in 13 (19%) of 68 patients followed up for five years postoperatively. A review of medical follow-up as reported in the literature showed progression of disease in 8% to 22% of patients followed up for five to ten years. There was no convincing evidence that mild primary hyperparathyroidism resulted in progressive osteoporosis or renal failure. Furthermore, no significant improvement in hypertension, peptic ulcer disease, or renal function followed successful parathyroid surgery. Unless future studies demonstrate progressive osteoporosis or renal damage in untreated, mild primary hyperparathyroidism, medical follow-up is a reasonable alternative to surgery in the compliant patient over 50 years of age.

Post-menopausal estrogen replacement: the prevention of osteoporosis and systemic effects.

The long-term effects of estrogen replacements in post-menopausal women were assessed in 61 estrogen-treated and 63 control subjects followed prospectively for 3-16 yr (mean 8.6 yr). A loss of height of 1.3 cm (1/2") or more developed with twice the frequency among control as among estrogen-replaced subjects, with the major difference appearing after 65 yr of age. However, estrogen replacement was not an absolute protection against height loss, especially after 70 yr of age. Myocardial infarctions and abnormal electrocardiograms were significantly reduced among the estrogen-replaced compared to the control subjects, but further observations are needed. Long-term estrogen replacement in post-menopausal women reduces the development of spinal osteoporosis and may reduce the development of ischemic heart disease.

Primary hyperparathyroidism. Changing clinical spectrum, prevalence of hypertension, and discriminant analysis of laboratory tests.

The clinical spectrum of 100 consecutive cases of surgically proved primary hyperparathyroidism treated from 1974 through 1978 was analyzed. Their laboratory test results were compared with 64 cases of other form of hypercalcemia using multivariate discriminant analysis. The clinical spectrum has dramatically shifted during the past three decades from renal calculi and bone disease to the asymptomatic patient discovered by routine serum chemical analysis. Hypertension was twice as common among hyperparathyroid patients as in the general population but failed to improve in 92% after parathyroidectomy. The most useful discriminant laboratory test in descending order of value were the serum chloride, serum calcium, hematocrit, serum phosphorus, and parathormone. Multivariate discriminant analysis of the serum calcium, phosphorus, chloride, and Hct provided a 98% degree of accuracy in separating hyperparathyroidism from other forms of hypercalcemia.